What are the symptoms of DiGeorge syndrome?

What are the symptoms of DiGeorge syndrome?

Symptoms of DiGeorge syndrome can range from minor to severe and vary from person to person.

In some cases people with DiGeorge syndrome have no symptoms at all. Sometimes they have distinctive facial features including hooded eyelids, cheek flatness, a prominent bulbous nasal tip, an underdeveloped chin, or ears that appear prominent with attached lobes. These features will vary from person to person.

Symptoms of DiGeorge syndrome may include:

  • Breathing difficulties.
  • Developmental disabilities including learning and behavioral problems.
  • Heart defects (congenital heart disease).
  • Hypocalcemia (lower than normal levels of calcium in the blood), which can cause a seizure disorder.
  • Immune system problems including increased infections and pneumonias due to impaired production of T-lymphocyte (white blood cells that fight infection).
  • Kidney abnormalities.
  • Endocrine (hormonal) system problems.
  • Speech issues including hypernasal speech.
  • Cleft lip and palate (opening in the lip or roof of the mouth).

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